ClinVar Miner

List of variants studied for Polycystic kidney disease, adult type by (GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada)

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.10441del (p.Val3481fs) rs2091884240
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) rs1378307448
NM_001009944.3(PKD1):c.10725_10726dup (p.Val3576fs) rs2151708812
NM_001009944.3(PKD1):c.10822-2A>G rs2151707926
NM_001009944.3(PKD1):c.11112_11119dup (p.Gln3707fs) rs2151704327
NM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs) rs2091620612
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter) rs2151682538
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter) rs2091450305
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.1548G>A (p.Trp516Ter) rs2151820663
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter) rs2092592999
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.4214G>A (p.Trp1405Ter) rs2151798372
NM_001009944.3(PKD1):c.4419del (p.Asn1474fs) rs2151797547
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del) rs1596556896
NM_001009944.3(PKD1):c.4995del (p.Trp1666fs) rs2151795458
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter) rs755591790
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln) rs2092344562
NM_001009944.3(PKD1):c.7957_7958del (p.Leu2653fs) rs2151766800
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370

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